Last Updated: 09/26/2026
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Found 15 publications
Neuromuscular Junction Disorders in Children: Approach to Diagnosis and Management.
Journal: Pediatric neurology
Published: May 11, 2026
Two Patients With Juvenile-Onset, Rapidly Progressive Amyotrophic Lateral Sclerosis Associated With an SOD1 Variant (p.Asp125Gly) With Incomplete Penetrance.
Journal: Muscle & nerve
Published: March 06, 2026
Two Patients With Juvenile-Onset, Rapidly Progressive Amyotrophic Lateral Sclerosis Associated With an SOD1 Variant (p.Asp125Gly) With Incomplete Penetrance.
Journal: Muscle & nerve
Published: March 06, 2026
New SMA era: A broad-range tiered assessment of function for the evolving SMA phenotype (EVOLVE-SMA).
Journal: Journal of neuromuscular diseases
Published: December 30, 2025
New Clinical Phenotype in a Child Presenting With an FHL1 Mutation.
Journal: Journal of child neurology
Published: May 19, 2025
Atypical Presentation of Congenital Muscular Dystrophy: A LAMA2 Related Muscular Dystrophy.
Journal: Journal of child neurology
Published: April 29, 2025
Use of the Assessment of Caregiver Experience with Neuromuscular Disease (ACEND) in Spinal Muscular Atrophy.
Journal: Journal of clinical medicine
Published: December 23, 2023
Prevalence of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in Individuals With Dystrophinopathy at a Tertiary Care Center in Chicago.
Journal: Pediatric neurology
Published: December 21, 2023
A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene.
Journal: Molecular genetics and metabolism reports
Published: October 12, 2023
Muscle channelopathies: A review.
Journal: Annals of the Child Neurology Society
Published: July 31, 2023
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Journal: Acta neuropathologica
Published: March 24, 2023
Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen.
Journal: Journal of neuromuscular diseases
Published: March 06, 2023
Last Updated: 09/26/2026